FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 27561

FusionGeneSummary for PLEC_PRPF6

check button Fusion gene summary
Fusion gene informationFusion gene name: PLEC_PRPF6
Fusion gene ID: 27561
HgeneTgene
Gene symbol

PLEC

PRPF6

Gene ID

5339

24148

Gene nameplectinpre-mRNA processing factor 6
SynonymsEBS1|EBSMD|EBSND|EBSO|EBSOG|EBSPA|HD1|LGMD2Q|PCN|PLEC1|PLEC1b|PLTNANT-1|ANT1|C20orf14|Prp6|RP60|SNRNP102|TOM|U5-102K|hPrp6
Cytomap

8q24.3

20q13.33

Type of geneprotein-codingprotein-coding
Descriptionplectinhemidesmosomal protein 1plectin 1, intermediate filament binding protein 500kDapre-mRNA-processing factor 6PRP6 homologPRP6 pre-mRNA processing factor 6 homologU5 snRNP-associated 102 kDa proteinU5-102 kDa proteinandrogen receptor N-terminal domain transactivating protein-1p102 U5 small nuclear ribonucleoprotein particle-bindi
Modification date2018052320180523
UniProtAcc

Q15149

O94906

Ensembl transtripts involved in fusion geneENST00000345136, ENST00000357649, 
ENST00000354589, ENST00000398774, 
ENST00000322810, ENST00000354958, 
ENST00000356346, ENST00000436759, 
ENST00000527096, 
ENST00000535781, 
Fusion gene scores* DoF score14 X 12 X 7=11767 X 7 X 2=98
# samples 146
** MAII scorelog2(14/1176*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/98*10)=-0.70781924850669
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLEC [Title/Abstract] AND PRPF6 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePLEC

GO:0031581

hemidesmosome assembly

12482924

TgenePRPF6

GO:0000398

mRNA splicing, via spliceosome

28781166

TgenePRPF6

GO:0045944

positive regulation of transcription by RNA polymerase II

16414017


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF762059PLECchr8

145039098

-PRPF6chr20

62664191

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000345136ENST00000535781PLECchr8

145039098

-PRPF6chr20

62664191

+
intron-3CDSENST00000357649ENST00000535781PLECchr8

145039098

-PRPF6chr20

62664191

+
intron-3CDSENST00000354589ENST00000535781PLECchr8

145039098

-PRPF6chr20

62664191

+
intron-3CDSENST00000398774ENST00000535781PLECchr8

145039098

-PRPF6chr20

62664191

+
intron-3CDSENST00000322810ENST00000535781PLECchr8

145039098

-PRPF6chr20

62664191

+
intron-3CDSENST00000354958ENST00000535781PLECchr8

145039098

-PRPF6chr20

62664191

+
intron-3CDSENST00000356346ENST00000535781PLECchr8

145039098

-PRPF6chr20

62664191

+
intron-3CDSENST00000436759ENST00000535781PLECchr8

145039098

-PRPF6chr20

62664191

+
intron-3CDSENST00000527096ENST00000535781PLECchr8

145039098

-PRPF6chr20

62664191

+

Top

FusionProtFeatures for PLEC_PRPF6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLEC

Q15149

PRPF6

O94906


check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for PLEC_PRPF6


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI for PLEC_PRPF6


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for PLEC_PRPF6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for PLEC_PRPF6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLECC3150989MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q2CTD_human;ORPHANET;UNIPROT
HgenePLECC0432317Epidermolysis bullosa simplex, Ogna type1CTD_human;ORPHANET;UNIPROT
TgenePRPF6C3151434RETINITIS PIGMENTOSA 601UNIPROT